AiPD: Autoinhibited Protein Database

O43903

Gene name	GAS2
Protein name	Growth arrest-specific protein 2
Names	GAS-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2620
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

60-131 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

60-131 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for O43903

Entry ID	Method	Resolution	Chain	Position	Source
AF-O43903-F1	Predicted				AlphaFoldDB

245 variants for O43903

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA219092532 rs1051078901	2	C>F		No	ClinGen Ensembl
CA380061310 rs1051078901	2	C>Y		No	ClinGen Ensembl
TCGA novel	4	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	5	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380061351 rs759888461	8	K>N		No	ClinGen ExAC TOPMed gnomAD
CA5924488 rs774687880	8	K>R		No	ClinGen ExAC gnomAD
CA219092533 rs866271246	9	V>I		No	ClinGen Ensembl
rs767695285 CA5924490	10	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752890533 CA5924491	10	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA380061359 rs752890533	10	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5924493 rs765165163	11	S>R		No	ClinGen ExAC gnomAD
rs888035146 CA219092534	12	G>R		No	ClinGen Ensembl
CA5924495 rs758180568	13	P>H		No	ClinGen ExAC gnomAD
CA5924496 rs779873360	14	G>S		No	ClinGen ExAC gnomAD
CA5924498 rs754689232	16	S>C		No	ClinGen ExAC gnomAD
rs754689232 CA380061392	16	S>F		No	ClinGen ExAC gnomAD
rs897558012 CA219092535	16	S>T		No	ClinGen TOPMed
CA380061406 rs1261703034	18	M>I		No	ClinGen gnomAD
CA380061401 rs780822556	18	M>L		No	ClinGen ExAC TOPMed gnomAD
rs780822556 CA5924499	18	M>V		No	ClinGen ExAC TOPMed gnomAD
CA219092536 rs1003064606	19	H>R		No	ClinGen Ensembl
CA5924500 rs747634423	25	L>P		No	ClinGen ExAC gnomAD
rs1173118560 CA380061461	26	A>T		No	ClinGen gnomAD
rs1376292474 CA380061472	27	S>N		No	ClinGen gnomAD
CA219092537 rs375761095	29	H>R		No	ClinGen ESP TOPMed gnomAD
rs1174567784 CA380061489	30	E>K		No	ClinGen gnomAD
CA5924502 rs201780635	31	A>T		No	ClinGen ExAC TOPMed gnomAD
rs749802933 CA5924503	32	N>S		No	ClinGen ExAC gnomAD
CA5924505 rs774918567	35	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	36	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5924506 rs541251414	36	M>V		No	ClinGen ExAC TOPMed gnomAD
COSM352358 CA219092539 rs1009559802	38	E>G	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA380061565 rs1299031365	41	A>D		No	ClinGen gnomAD
rs1299031365 CA380061567	41	A>V		No	ClinGen gnomAD
CA380061574 rs1021489152	42	L>F		No	ClinGen gnomAD
rs747651396 CA219092541	43	W>R		No	ClinGen Ensembl
CA5924509 rs760761357	46	N>S		No	ClinGen ExAC gnomAD
TCGA novel	48	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764118419 CA5924510	48	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1255287335 CA380059745	49	G>V		No	ClinGen gnomAD
CA5924531 rs566866068	52	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs373635653 CA5924532	54	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1590631263 CA380059888	56	T>I		No	ClinGen Ensembl
CA380059925 rs1421001628	58	M>L		No	ClinGen gnomAD
CA219093800 rs1018754306	58	M>T		No	ClinGen Ensembl
CA380060028 rs1590631289	60	K>R		No	ClinGen Ensembl
rs1393770088 CA380060071	63	N>D		No	ClinGen gnomAD
rs1207009974 CA380060082	63	N>S		No	ClinGen gnomAD
rs774292204 CA5924533	64	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1327763000 CA380060128	65	A>G		No	ClinGen gnomAD
CA380060152 rs1397867473	66	L>F		No	ClinGen gnomAD
CA380060172 rs1479270310	67	L>P		No	ClinGen TOPMed
CA5924535 rs767258981	70	L>F		No	ClinGen ExAC gnomAD
CA380060249 rs1375035108 COSM1507725	71	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA380060283 rs1590631433	74	M>T		No	ClinGen Ensembl
rs146140003 CA5924536 COSM926007	76	E>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA380060358 rs1200865034	78	F>I		No	ClinGen gnomAD
rs1271125315 CA380060387	79	K>M		No	ClinGen gnomAD
rs146975877 CA380060414	80	E>D		No	ClinGen 1000Genomes gnomAD
CA5924537 rs755784400	81	S>G		No	ClinGen ExAC TOPMed gnomAD
rs755784400 CA380060419	81	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1590631513 CA380060446	82	M>I		No	ClinGen Ensembl
rs375553055 CA219093803	82	M>K		No	ClinGen gnomAD
CA380060442 rs375553055	82	M>T		No	ClinGen gnomAD
rs1275581433 CA598019468	83	D>E		No	ClinGen gnomAD
rs763659821 CA5924538	83	D>N		No	ClinGen ExAC gnomAD
rs1233716703 CA380060487	86	K>N		No	ClinGen gnomAD
CA5924540 rs61737410	87	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380060490 rs61737410	87	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35691300 CA5924558	90	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380062157 rs1565111930	90	N>S		No	ClinGen Ensembl
rs1375644020 CA380062160	91	L>I		No	ClinGen gnomAD
rs1436094642 CA380062166	92	P>A		No	ClinGen gnomAD
CA5924559 rs750951015	92	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	92	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs999654414 CA219098662	93	L>W		No	ClinGen Ensembl
TCGA novel	95	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA219098663 rs893804810	95	K>R		No	ClinGen TOPMed gnomAD
CA5924562 rs780615369	96	I>M		No	ClinGen ExAC TOPMed gnomAD
rs751812400 CA5924563	98	C>G		No	ClinGen ExAC gnomAD
CA380062205 rs1348892455	98	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5924564 rs755388808	99	K>N		No	ClinGen ExAC gnomAD
CA5924565 rs781349255	100	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1446441127 CA380062229	101	S>R		No	ClinGen TOPMed gnomAD
CA5924566 rs748405791	103	P>R		No	ClinGen ExAC gnomAD
rs769844769 CA5924567	104	S>L		No	ClinGen ExAC TOPMed gnomAD
CA380062273 rs1455331890	108	F>L		No	ClinGen gnomAD
CA380062276 rs1156387746	109	A>S		No	ClinGen gnomAD
CA5924571 rs775511146	113	T>A		No	ClinGen ExAC TOPMed gnomAD
CA380062334 rs1565112127	117	L>S		No	ClinGen Ensembl
CA380062341 rs760338425	118	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5924572 rs760338425	118	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA219098665 rs1002675183	119	W>*		No	ClinGen TOPMed
CA219098666 rs996044099	120	C>R		No	ClinGen gnomAD
rs1303163211 CA380062358	121	R>*		No	ClinGen TOPMed gnomAD
CA380062359 rs1372094047	121	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA380062380 rs1223853252	124	G>E		No	ClinGen gnomAD
CA380062410 rs1205756000	127	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs776392711 CA5924575	128	T>M		No	ClinGen ExAC TOPMed gnomAD
CA380062459 rs1212947939	130	L>P		No	ClinGen gnomAD
rs202178366 CA5924577	132	E>Q		No	ClinGen ExAC gnomAD
CA380062504 rs1280902910	133	S>L		No	ClinGen TOPMed
CA380062528 rs1176459347	135	G>C		No	ClinGen gnomAD
rs1444799551 CA380062991	137	V>G		No	ClinGen TOPMed
CA5924597 rs765949417	139	H>R		No	ClinGen ExAC gnomAD
rs760149502 CA5924599	141	Q>*		No	ClinGen ExAC gnomAD
CA380063024 rs1434241221	142	P>H		No	ClinGen gnomAD
CA380063038 rs1355559042	144	E>G		No	ClinGen TOPMed
CA380063034 rs1313587531 COSM926010	144	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1357407900 CA380063050	146	C>S		No	ClinGen gnomAD
rs1271104717 CA380063059	147	L>H		No	ClinGen TOPMed
rs919804537 CA219099822	151	E>D		No	ClinGen Ensembl
CA380063084 rs1294748386	151	E>G		No	ClinGen gnomAD
TCGA novel	152	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380063099 rs752997248	154	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1229337785 CA380063100	154	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5924602 rs752997248	154	R>W		No	ClinGen ExAC TOPMed gnomAD
CA380063105 rs1277822946	155	I>F		No	ClinGen gnomAD
rs756488991 CA5924603	155	I>T		No	ClinGen ExAC gnomAD
rs1428834337 CA380063117	157	A>D		No	ClinGen TOPMed
rs764251796 CA5924604	157	A>S		No	ClinGen ExAC gnomAD
CA380059793 rs1458782485	159	Y>C		No	ClinGen gnomAD
CA219101106 rs371812344	160	G>D		No	ClinGen ESP TOPMed
CA380059887 rs1345015539	163	P>L		No	ClinGen TOPMed
rs1441322956 CA380059882	163	P>S		No	ClinGen TOPMed gnomAD
rs1441322956 CA380059875	163	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA380059898 rs1590086208	164	P>S		No	ClinGen Ensembl
rs1370707223 CA380059913	165	G>V		No	ClinGen gnomAD
CA219101107 rs267602827	166	L>S		No	ClinGen Ensembl
rs1225833826 CA380059951	167	I>M		No	ClinGen TOPMed
rs1307087363 CA380059975	169	L>Q		No	ClinGen gnomAD
rs770553015 CA5924634	171	K>E		No	ClinGen ExAC gnomAD
CA380060134 rs1214695647	177	E>G		No	ClinGen gnomAD
CA380060180 rs1248763753	180	S>P		No	ClinGen gnomAD
rs745338293 COSM1492558 CA5924636	181	A>T	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5924638 rs775945879	182	P>L		No	ClinGen ExAC gnomAD
TCGA novel	182	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761221779 CA5924639	184	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA380060234 rs1415115012	185	S>A		No	ClinGen Ensembl
CA5924640 rs768890751	187	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	187	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA219101109 rs868829549	188	P>S		No	ClinGen Ensembl
rs1159136148 CA380060276	189	S>T		No	ClinGen gnomAD
rs762095950 CA5924642	191	K>E		No	ClinGen ExAC TOPMed gnomAD
CA380060294 rs762095950	191	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs765449106 CA5924643	191	K>T		No	ClinGen ExAC
rs1352474553 CA380060305	192	S>P		No	ClinGen gnomAD
CA219101110 rs202071606	193	S>P		No	ClinGen 1000Genomes TOPMed
rs763090766 CA5924645	197	S>G		No	ClinGen ExAC gnomAD
rs1298342370 CA380060363	197	S>N		No	ClinGen gnomAD
CA219101112 rs866378676	199	G>E		No	ClinGen Ensembl
rs766611048 CA5924646	201	L>V		No	ClinGen ExAC gnomAD
CA219101113 rs986737847	203	D>G		No	ClinGen TOPMed gnomAD
CA5924647 rs752664839	204	D>G		No	ClinGen ExAC gnomAD
CA380060445 rs1306079209	205	A>T		No	ClinGen gnomAD
CA5924668 rs759705654	208	R>*		No	ClinGen ExAC gnomAD
CA5924669 rs764047229 COSM136826	208	R>Q	skin haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1172578085 CA380060575	209	I>V		No	ClinGen gnomAD
CA5924671 rs61752921	211	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1203130538 CA380060599	212	D>V		No	ClinGen TOPMed
rs1221716872 CA380060606	213	P>L		No	ClinGen gnomAD
COSM106943 CA219101846 rs147592960	213	P>T	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA5924673 rs750063802	214	P>L		No	ClinGen ExAC gnomAD
CA5924672 rs145978353	214	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380060630 rs1275601909	217	C>Y		No	ClinGen TOPMed
CA380060638 rs1461894722	218	P>L		No	ClinGen gnomAD
rs1590093891 CA380060637	218	P>S		No	ClinGen Ensembl
rs779693373 CA5924675	219	N>I		No	ClinGen ExAC gnomAD
CA380060643 rs779693373	219	N>T		No	ClinGen ExAC gnomAD
rs758115514 CA5924674	219	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA5924677 CA380060653 rs754477113	220	K>N		No	ClinGen ExAC TOPMed gnomAD
CA380060660 rs1232395484	221	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA380060685 rs1221007893	225	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5924678 rs781701452	225	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748647358 CA5924679	226	L>F		No	ClinGen ExAC gnomAD
CA5924680 rs770178539	226	L>H		No	ClinGen ExAC TOPMed gnomAD
CA380060691 rs770178539	226	L>R		No	ClinGen ExAC TOPMed gnomAD
CA5924682 rs749671965	227	S>C		No	ClinGen ExAC gnomAD
CA380060699 rs1437066829	228	Q>*		No	ClinGen gnomAD
TCGA novel	228	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200391147 CA5924683	229	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA5924684 rs774739106	231	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA219101848 rs774739106	231	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA5924686 rs767538779	232	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5924687 rs776608819	232	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5924688 rs776608819	232	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs765013171 CA5924689	233	V>E		No	ClinGen ExAC gnomAD
rs1391344939 CA380060759	238	L>I		No	ClinGen gnomAD
rs1391344939 CA380060760	238	L>V		No	ClinGen gnomAD
CA5924692 rs139683102	239	F>L		No	ClinGen ESP ExAC gnomAD
CA380060773 rs1325554505	240	I>V		No	ClinGen gnomAD
rs751248873 CA5924693	241	R>K		No	ClinGen ExAC gnomAD
rs752088838 CA5924714	249	M>T		No	ClinGen ExAC gnomAD
rs755673719 CA5924715	251	R>C		No	ClinGen ExAC TOPMed gnomAD
CA380061732 rs778386342	251	R>H		No	ClinGen ExAC gnomAD
CA5924716 rs778386342	251	R>L		No	ClinGen ExAC gnomAD
CA219108063 rs778386342	251	R>P		No	ClinGen ExAC gnomAD
rs754436985 CA5924717	255	G>D		No	ClinGen ExAC gnomAD
TCGA novel	257	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183737693 CA380061775	258	T>A		No	ClinGen gnomAD
rs746102855 CA5924720	263	L>V		No	ClinGen ExAC TOPMed gnomAD
CA380061834 rs746242334	266	H>Q		No	ClinGen gnomAD
CA5924721 rs772121991	266	H>R		No	ClinGen ExAC gnomAD
CA5924723 rs747018038	267	D>E		No	ClinGen ExAC gnomAD
CA5924722 rs780339322	267	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	268	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773108609 CA5924725	270	R>*		No	ClinGen ExAC TOPMed gnomAD
rs762930951 CA5924726 COSM3809003	270	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5924727 rs370916450	271	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA380061863 rs1261264658	271	M>K		No	ClinGen TOPMed
CA380061869 rs1356704562	272	L>P		No	ClinGen TOPMed
CA380061873 rs1414115536	273	Q>*		No	ClinGen gnomAD
CA5924729 rs759387460	274	I>F		No	ClinGen ExAC gnomAD
CA380061886 rs1224956023	275	S>P		No	ClinGen gnomAD
CA5924730 rs767026081	276	R>C		No	ClinGen ExAC gnomAD
COSM466688 rs752428470 CA5924732	276	R>H	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5924731 rs752428470	276	R>L		No	ClinGen ExAC gnomAD
CA380061915 rs1277605739	280	K>E		No	ClinGen gnomAD
CA380061933 rs1200429891	282	S>C		No	ClinGen TOPMed gnomAD
CA380061932 rs1200429891	282	S>Y		No	ClinGen TOPMed gnomAD
CA380061938 rs1564899589	283	P>L		No	ClinGen Ensembl
rs757909642 CA5924735	283	P>S		No	ClinGen ExAC gnomAD
rs779481710 CA5924737	286	S>N		No	ClinGen ExAC gnomAD
rs566257901 CA219108065	286	S>R		No	ClinGen 1000Genomes
CA5924739 rs538442989	287	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5924738 rs538442989	287	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754958566 CA5924741	290	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5924740 rs754958566	290	T>S		No	ClinGen ExAC TOPMed gnomAD
COSM3979527 CA380061982 rs1450356840	291	L>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs558291525 CA5924742	293	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380061995 rs1170663755	293	D>N		No	ClinGen gnomAD
rs1303422974 COSM926013 CA380062009	294	M>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5924743 rs142914168	294	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380062013 rs1387226158	295	N>T		No	ClinGen TOPMed
rs748229869 CA5924744	296	P>L		No	ClinGen ExAC gnomAD
CA5924745 rs770795182	297	D>E		No	ClinGen ExAC gnomAD
rs1449021463 CA380062039	299	Y>H		No	ClinGen TOPMed
rs376085542 CA5924746	300	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5924748 rs771942836	303	S>P		No	ClinGen ExAC TOPMed gnomAD
CA219108066 rs146123653	305	S>I		No	ClinGen ESP
rs774983841 CA5924749	305	S>R		No	ClinGen ExAC gnomAD
rs1022682962 CA219108067	306	Y>D		No	ClinGen Ensembl
rs1262318077 CA380062092	307	K>R		No	ClinGen TOPMed
rs149855507 CA5924753	311	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5924752 rs149855507	311	E>V		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with O43903

2 regional properties for O43903

Type	Name	Position	InterPro Accession
domain	Calponin homology domain	34 - 156	IPR001715
domain	GAR domain	197 - 273	IPR003108

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton, stress fiber Membrane ; Peripheral membrane protein	Component of the microfilament system Colocalizes with actin fibers at the cell border and along the stress fibers in growth-arrested fibroblasts Mainly membrane-associated When hyperphosphorylated, accumulates at membrane ruffles
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
actin filament	A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

3 GO annotations of molecular function

Name	Definition
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
cytoskeletal anchor activity	The binding activity of a protein that brings together a cytoskeletal protein (either a microtubule or actin filament, spindle pole body, or protein directly bound to them) and one or more other molecules, permitting them to function in a coordinated way.
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.

10 GO annotations of biological process

Name	Definition
actin crosslink formation	The process in which two or more actin filaments are connected together by proteins that act as crosslinks between the filaments. The crosslinked filaments may be on the same or differing axes.
antral ovarian follicle growth	Increase in size of antral follicles due to cell proliferation and/or growth of the antral cavity.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
basement membrane organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the basement membrane.
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
initiation of primordial ovarian follicle growth	Increase in size of primordial follicles including proliferation and shape changes of granulosa and/or theca cells until oocyte is surrounded by one layer of cuboidal shaped granulosa cells (primary follicle).
ovulation	The release of a mature ovum/oocyte from an ovary.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of Notch signaling pathway	Any process that modulates the frequency, rate or extent of the Notch signaling pathway.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P11862	Gas2	Growth arrest-specific protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MCTALSPKVR	SGPGLSDMHQ	YSQWLASRHE	ANLLPMKEDL	ALWLTNLLGK	EITAETFMEK
70	80	90	100	110	120
LDNGALLCQL	AETMQEKFKE	SMDANKPTKN	LPLKKIPCKT	SAPSGSFFAR	DNTANFLSWC
130	140	150	160	170	180
RDLGVDETCL	FESEGLVLHK	QPREVCLCLL	ELGRIAARYG	VEPPGLIKLE	KEIEQEETLS
190	200	210	220	230	240
APSPSPSPSS	KSSGKKSTGN	LLDDAVKRIS	EDPPCKCPNK	FCVERLSQGR	YRVGEKILFI
250	260	270	280	290	300
RMLHNKHVMV	RVGGGWETFA	GYLLKHDPCR	MLQISRVDGK	TSPIQSKSPT	LKDMNPDNYL
310
VVSASYKAKK	EIK